Reply to ten Kate et al

著者: Gialluisi, Alessandro, Pippucci, Tommaso, Romeo, Giovanni
出版事項 2014

XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments

著者: Magi, Alberto, Pippucci, Tommaso, Sidore, Carlo
出版年 BMC Genomics (2017)

Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2

著者: D'Aurizio, Romina, Pippucci, Tommaso, Tattini, Lorenzo, Giusti, Betti, Pellegrini, Marco, Magi, Alberto
出版年 Nucleic Acids Res (2016)

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

著者: Gialluisi, Alessandro, Incollu, Simona, Pippucci, Tommaso, Lepori, Maria Barbara, Zappu, Antonietta, Loudianos, Georgios, Romeo, Giovanni
出版事項 2013

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

著者: Gialluisi, Alessandro, Incollu, Simona, Pippucci, Tommaso, Barbara Lepori, Maria, Zappu, Antonietta, Loudianos, Georgios, Romeo, Giovanni
出版事項 2014

AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics

著者: Magi, Alberto, Giangregorio, Tania, Semeraro, Roberto, Carangelo, Giulia, Palombo, Flavia, Romeo, Giovanni, Seri, Marco, Pippucci, Tommaso
出版年 Comput Struct Biotechnol J (2020)

In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss

著者: Al-Kindi, Mohammed Nasser, Al-Khabouri, Mazin Jawad, Al-Lamki, Khalsa Ahmad, Palombo, Flavia, Pippucci, Tommaso, Romeo, Giovanni, Al-Wardy, Nadia Mohammed
出版年 J Genet Eng Biotechnol (2020)

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies

著者: Harel, Tamar, Griffin, John N, Arbogast, Thomas, Monroe, Tanner O, Palombo, Flavia, Martinelli, Marcella, Seri, Marco, Pippucci, Tommaso, Elpeleg, Orly, Katsanis, Nicholas
出版年 Hum Mol Genet (2020)

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

著者: Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio
出版事項 2013

Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?

著者: Guerrini, Renzo, Cavallin, Mara, Pippucci, Tommaso, Rosati, Anna, Bisulli, Francesca, Dimartino, Paola, Barba, Carmen, Garbelli, Rita, Buccoliero, Anna Maria, Tassi, Laura, Conti, Valerio
出版年 Neurol Genet (2020)

Characterization and identification of hidden rare variants in the human genome

著者: Magi, Alberto, D’Aurizio, Romina, Palombo, Flavia, Cifola, Ingrid, Tattini, Lorenzo, Semeraro, Roberto, Pippucci, Tommaso, Giusti, Betti, Romeo, Giovanni, Abbate, Rosanna, Gensini, Gian Franco
出版年 BMC Genomics (2015)

5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

著者: Marconi, Caterina, Canobbio, Ilaria, Bozzi, Valeria, Pippucci, Tommaso, Simonetti, Giorgia, Melazzini, Federica, Angori, Silvia, Martinelli, Giovanni, Saglio, Giuseppe, Torti, Mauro, Pastan, Ira, Seri, Marco, Pecci, Alessandro
出版年 J Hematol Oncol (2017)

Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients

著者: Ciavarella, Michele, Miccoli, Sara, Prossomariti, Anna, Pippucci, Tommaso, Bonora, Elena, Buscherini, Francesco, Palombo, Flavia, Zuntini, Roberta, Balbi, Tiziana, Ceccarelli, Claudio, Bazzoli, Franco, Ricciardiello, Luigi, Turchetti, Daniela, Piazzi, Giulia
出版年 Eur J Hum Genet (2018)

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

著者: Rinaldi, Berardo, Vaisfeld, Alessandro, Amarri, Sergio, Baldo, Chiara, Gobbi, Giuseppe, Magini, Pamela, Melli, Erto, Neri, Giovanni, Novara, Francesca, Pippucci, Tommaso, Rizzi, Romana, Soresina, Annarosa, Zampini, Laura, Zuffardi, Orsetta, Crimi, Marco
出版年 Orphanet J Rare Dis (2017)

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

著者: Marconi, Caterina, Brunamonti Binello, Paolo, Badiali, Giovanni, Caci, Emanuela, Cusano, Roberto, Garibaldi, Joseph, Pippucci, Tommaso, Merlini, Alberto, Marchetti, Claudio, Rhoden, Kerry J, Galietta, Luis J V, Lalatta, Faustina, Balbi, Paolo, Seri, Marco
出版事項 2013

Epilepsy with auditory features: A heterogeneous clinico-molecular disease

著者: Pippucci, Tommaso, Licchetta, Laura, Baldassari, Sara, Palombo, Flavia, Menghi, Veronica, D'Aurizio, Romina, Leta, Chiara, Stipa, Carlotta, Boero, Giovanni, d'Orsi, Giuseppe, Magi, Alberto, Scheffer, Ingrid, Seri, Marco, Tinuper, Paolo, Bisulli, Francesca
出版年 Neurol Genet (2015)

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

著者: Bottega, Roberta, Marconi, Caterina, Faleschini, Michela, Baj, Gabriele, Cagioni, Claudia, Pecci, Alessandro, Pippucci, Tommaso, Ramenghi, Ugo, Pardini, Simonetta, Ngu, Loretta, Baronci, Carlo, Kunishima, Shinji, Balduini, Carlo L., Seri, Marco, Savoia, Anna, Noris, Patrizia
出版年 Blood (2015)

BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype

著者: Zuntini, Roberta, Cortesi, Laura, Calistri, Daniele, Pippucci, Tommaso, Martelli, Pier Luigi, Casadio, Rita, Capizzi, Elisa, Santini, Donatella, Miccoli, Sara, Medici, Veronica, Danesi, Rita, Marchi, Isabella, Zampiga, Valentina, Fiorentino, Michelangelo, Ferrari, Simona, Turchetti, Daniela
出版年 Oncotarget (2017)

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

著者: Zawerton, Ash, Yao, Baojin, Yeager, J. Paige, Pippucci, Tommaso, Haseeb, Abdul, Smith, Joshua D., Wischmann, Lisa, Kühl, Susanne J., Dean, John C.S., Pilz, Daniela T., Holder, Susan E., McNeill, Alisdair, Graziano, Claudio, Lefebvre, Véronique
出版年 Am J Hum Genet (2019)

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

著者: Zawerton, Ash, Yao, Baojin, Yeager, J. Paige, Pippucci, Tommaso, Haseeb, Abdul, Smith, Joshua D., Wischmann, Lisa, Kühl, Susanne J., Dean, John C.S., Pilz, Daniela T., Holder, Susan E., McNeill, Alisdair, Graziano, Claudio, Lefebvre, Véronique
出版年 Am J Hum Genet (2019)